Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000164340 | SCV000214972 | likely benign | Hereditary cancer-predisposing syndrome | 2020-02-20 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Gene |
RCV000679286 | SCV000517271 | likely benign | not provided | 2018-10-15 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 17095871) |
Prevention |
RCV000679286 | SCV000805994 | likely benign | not provided | 2017-02-20 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000164340 | SCV000903498 | likely benign | Hereditary cancer-predisposing syndrome | 2017-08-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001082605 | SCV001006621 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000164340 | SCV002528838 | likely benign | Hereditary cancer-predisposing syndrome | 2021-02-13 | criteria provided, single submitter | curation | |
All of Us Research Program, |
RCV003997146 | SCV004831029 | likely benign | Lynch syndrome | 2023-12-01 | criteria provided, single submitter | clinical testing |